Pompe disease is an extra-rare metabolic storage disease with deficiency of acid-alpha-glucosidase (GAA) enzyme activity, which leads to the pathologic accumulation of glycogen in target tissues (skeletal muscles, heart, brain). Clinical features and severity vary by the age of onset, rate of extent of organ involvement. In the late-onset Pompe disease (LOPD) form, essential cardiomyopathy seem...

Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations. It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which a therapy (enzyme replacement) has been approved. As GAA is the only enzyme that hydrolyses glycogen to glucose in the acidic environment of ...

Pompe disease (glycogen storage disease type II) is an autosomal recessive neuromuscular disorder arising from a deficiency of lysosomal acid α-glucosidase (GAA). Accumulation of autophagosomes is a key pathological change in skeletal muscle fibers and fibroblasts from patients with Pompe disease and is implicated in the poor response to enzyme replacement therapy (ERT). We previously found tha...

Pompe disease (glycogen storage disease type II) is a glycogen storage disease caused by a deficiency of the lysosomal enzyme, acid maltase/acid alpha-1,4 glucosidase (GAA). Deficiency of the enzyme leads primarily to intra-lysosomal glycogen accumulation, primarily in cardiac and skeletal muscles, due to the inability of converting glycogen into glucose. Enzyme replacement therapy (ERT) has be...

BACKGROUND Pompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. The aim of this study was to assess the effect of ERT on surviv...

BACKGROUND Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessible dried blood spot test when Pompe disease is suspected. Like several neuromuscular disorders, Pompe disease ...

(population 5.5 million). We conducted a screening program in the largest neuromuscular clinic, and respiratory center in Denmark, as we hypothesised that the condition may be overlooked. The inclusion criteria were age (over 15 years), unexplained hyper-CK-aemia and myopathy, unclassified Limb-girdle muscular dystrophy (LGMD) and unexplained, restrictive respiratory insufficiency. We went thro...

Pompe disease results from a defi ciency or absence of the lysosomal enzyme acid alpha glucosidase (GAA), resulting in lysosomal glycogen accumulation that impacts cardiac, respiratory and neuromuscular function. Respiratory failure is the leading cause of morbidity and mortality in Pompe patients. AAV vectors expressing GAA are currently being evaluated in a phase I/II study in ventilator-depe...

changes could explain the high prevalence of obstructive sleep apnea in Pompe patients (Margolis et al., 1994). To conclude, Lee et al.’s (2011) observations raise the ante considerably concerning the pathophysiology and treatment of Pompe disease. The evidence points to “double-trouble” for respiration. Not alone is there impairment in the physiological function of the effector organs of the c...

Clinical diversity is a common phenomenon in lysosomal storage diseases and has led to the introduction of clinical subtypes. The natural course of Pompe disease is primarily dictated by the type of mutations in the acid alpha-glucosidase gene (GAA) or rather by the residual enzyme activity of acid alphaglucosidase resulting from the combination of the mutated allelic products. Thirty per cent ...